Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02243:Edn2'

286076

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edn2

Ensembl Gene

ENSMUSG00000028635

Gene Name

endothelin 2

Synonyms

VIC, vasoactive intestinal contractor peptide

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02243

Quality Score

Status

Chromosome

Chromosomal Location

120018403-120024557 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 120019229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030384]

AlphaFold

P22389

Predicted Effect

probably null
Transcript: ENSMUST00000030384

SMART Domains

Protein: ENSMUSP00000030384
Gene: ENSMUSG00000028635

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
END	45	66	1.5e-8	SMART
low complexity region	81	87	N/A	INTRINSIC
END	92	113	1.49e-3	SMART
low complexity region	115	127	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the endothelin family of peptides. The encoded preproprotein undergoes proteolytic processing to generate a potent vasoconstrictive peptide. This gene is abundantly expressed in the gastrointestinal tract, strongly induced in photorecepteror cells in retinal diseases and injury, and produced by microglia and macrophages in the early stages of glaucoma. Mice lacking the encoded protein exhibit severe growth retardation, hypothermia and juvenile lethality. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, hypothermia, hypoxemic hypoxia, hypercapnia, emphysema and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	A	G	10: 80,138,175 (GRCm39)	Y87C	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Brsk2	T	C	7: 141,547,036 (GRCm39)	F493S	probably damaging	Het
Cd19	T	C	7: 126,009,965 (GRCm39)		probably null	Het
Cfap91	T	C	16: 38,162,142 (GRCm39)		probably benign	Het
Chd2	T	C	7: 73,147,456 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ddx19a	T	G	8: 111,703,088 (GRCm39)	I450L	probably benign	Het
Elp2	G	A	18: 24,755,663 (GRCm39)	R470Q	probably benign	Het
Fhdc1	T	G	3: 84,381,947 (GRCm39)	M1L	possibly damaging	Het
Gba2	A	T	4: 43,568,719 (GRCm39)	I619N	probably benign	Het
Glce	A	G	9: 61,977,422 (GRCm39)	F154S	probably damaging	Het
Gm3476	A	T	14: 6,122,811 (GRCm38)	C195*	probably null	Het
Hsp90aa1	A	G	12: 110,661,525 (GRCm39)	S164P	probably damaging	Het
Iqcg	T	C	16: 32,865,962 (GRCm39)	D127G	probably damaging	Het
Jag2	G	A	12: 112,879,965 (GRCm39)	T381I	possibly damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lhx2	T	A	2: 38,243,531 (GRCm39)		probably benign	Het
Lrrc2	A	T	9: 110,799,125 (GRCm39)	N158I	probably damaging	Het
M1ap	C	T	6: 83,003,269 (GRCm39)	P389S	probably damaging	Het
Masp2	A	T	4: 148,687,525 (GRCm39)	D104V	probably benign	Het
Met	G	A	6: 17,549,093 (GRCm39)	V982I	probably damaging	Het
Msh2	T	A	17: 87,985,796 (GRCm39)		probably benign	Het
Myh9	A	G	15: 77,651,682 (GRCm39)	L1509P	probably damaging	Het
Mylk2	A	G	2: 152,762,473 (GRCm39)	H554R	probably damaging	Het
Oxr1	T	G	15: 41,399,097 (GRCm39)		probably benign	Het
Pdp1	A	T	4: 11,961,873 (GRCm39)	V146D	probably benign	Het
Pdzrn4	A	T	15: 92,668,577 (GRCm39)	M910L	probably benign	Het
Prl2a1	T	C	13: 27,991,400 (GRCm39)		probably benign	Het
Rapgef6	C	T	11: 54,567,226 (GRCm39)	P1136S	probably damaging	Het
Rasgef1c	A	T	11: 49,848,217 (GRCm39)	S69C	possibly damaging	Het
Rnaseh1	C	T	12: 28,705,631 (GRCm39)	R152W	probably damaging	Het
Sele	T	C	1: 163,880,537 (GRCm39)	V373A	probably benign	Het
Tmem67	G	A	4: 12,070,584 (GRCm39)	S314L	possibly damaging	Het
Traf4	T	C	11: 78,051,343 (GRCm39)	E271G	probably benign	Het
Trim39	T	C	17: 36,571,276 (GRCm39)	D494G	probably damaging	Het
Virma	G	A	4: 11,546,031 (GRCm39)	R1673Q	probably damaging	Het

Other mutations in Edn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Edn2	APN	4	120,020,649 (GRCm39)	missense	probably damaging	1.00
IGL03295:Edn2	APN	4	120,019,178 (GRCm39)	missense	probably damaging	1.00
R0613:Edn2	UTSW	4	120,019,061 (GRCm39)	splice site	probably null
R1378:Edn2	UTSW	4	120,019,095 (GRCm39)	missense	probably benign	0.01
R7272:Edn2	UTSW	4	120,019,143 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16